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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Gamma-aminobutyric acid type A receptor subunit beta3
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
15
Cytoband
q12
Chromosome location (bp)
26543552 - 26939539
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain 1,2,3,4,5,6,7. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) 8,9,10. GABAARs containing beta-3/GABRB3 subunit are found at both synaptic and extrasynaptic sites (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient 11,12,13,14. Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission 15,16. GABAARs containing alpha-1 and beta-3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation 17. Extrasynaptic beta-3 receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs containing alpha-1, beta-3 and epsilon subunits may also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings (By similarity). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness 18,19,20. Plays an important role in somatosensation and in the production of antinociception (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Chloride
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
X5DQY4 [Target identity:100%; Query identity:100%] Gamma-aminobutyric acid A receptor beta 3 isoform A
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Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:0097060[synaptic membrane] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
The Human Protein Atlas project is funded
